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22. January 2018 (MND-net)
Hot-spot KIF5A mutations cause familial ALS
Brain. 2018 Jan 12. doi: 10.1093/brain/awx370.
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D; German ALS network MND-NET, Kubisch C, Jablonka S, Sendtner M9, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J1, Weis J, Otto M, Schuster J1, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH.
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15. November 2016 (MD-NetMND-net)
The concept and diagnostic criteria of primary lateral sclerosis
Acta Neurol Scand. 2016 Nov 15. doi: 10.1111/ane.12713. [Epub ahead of print]
Wais V, Rosenbohm A, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Nagel G, Kassubek J, Weydt P, Brettschneider J, Weishaupt JH, Ludolph AC, Dorst J.
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5. November 2016 (MD-NetMND-net)
Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net
Amyotroph Lateral Scler Frontotemporal Degener. 2016 Nov 5:1-8. [Epub ahead of print]
Steinacker P, Huss A, Mayer B, Grehl T, Grosskreutz J, Borck G, Kuhle J, Lulé D, Meyer T, Oeckl P, Petri S, Weishaupt J, Ludolph AC, Otto M.
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1. March 2016 (MD-NetMND-net)
Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD
J Neural Transm (Vienna). 2016 Mar;123(3):289-96.
Feneberg E, Steinacker P, Volk AE, Weishaupt JH, Wollmer MA, Boxer A, Tumani H, Ludolph AC, Otto M.
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11. September 2015 (MND-net)
Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant
Brain. 2015 Sep 11. [Epub ahead of print]
Marroquin N, Stranz S, Müller K, Wieland T, Ruf WP, Brockmann SJ, Danzer KM, Borck G, Hübers A, Weydt P, Meitinger T, Strom TM, Rosenbohm A, Ludolph AC, Weishaupt JH.
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24. March 2015 (MND-net)
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Nat Neurosci. 2015 May;18(5):631-6. Epub 2015 Mar 24
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH.
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1. March 2015 (MND-net)
The Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen: a cross-sectional comparison of established screening tools in a German-Swiss population
Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):16-23. doi:10.3109/21678421.2014.959451. Epub 2014 Oct 8
Lulé D, Burkhardt C, Abdulla S, Böhm S, Kollewe K, Uttner I, Abrahams S, Bak TH, Petri S, Weber M, Ludolph AC.
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1. December 2014 (MND-net)
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
Brain. 2014 Dec;137(Pt 12):e309. doi: 10.1093/brain/awu227. Epub 2014 Aug 11
Müller K, Andersen PM, Hubers A, Marroquin N, Volk AE, Danzer KM, Meitinger T, Ludolph AC , Strom TM , Weishaupt JH.
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5. September 2014 (MND-net)
Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers
Brain. 2014 Nov;137(Pt 11):2938-50. Epub 2014 Sep 5
Freischmidt A, Müller K, Zondler L, Weydt P, Volk AE, Božič AL, Walter M, Bonin M, Mayer B, von Arnim CA, Otto M, Dieterich C, Holzmann K, Andersen PM, Ludolph AC, Danzer KM, Weishaupt JH.
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1. August 2014 (MND-net)
FXN GAA repeat expansions in amyotrophic lateral sclerosis
J Clin Neurosci. 2014 Aug;21(8):1319-22. doi: 10.1016/j.jocn.2013.10.029. Epub 2014 Jan 27
Rizik N, Freischmidt A; Ludolph AC, Weishaupt JH.
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15. May 2014 (MND-net)
Endoplasmic reticulum stress is accompanied by activation of NF-κB in amyotrophic lateral sclerosis.
J Neuroimmunol. 2014 May 15;270(1-2):29-36.
Prell T, Lautenschläger J, Weidemann L, Ruhmer J, Witte OW, Grosskreutz J.
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1. May 2014 (MND-net)
Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases
Neurobiol Aging 2014 May;35(5):1214.e1-6. doi: 10.1016/j.neurobiolaging.2013.11.034. Epub 2013 Dec 4.
Hübers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Högel J. Dorst J. Mertens T, Just W, Aulitzky A, Wais V, Ludolph AC, Kubisch C, Weishaupt JH, Volk AE.
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15. April 2014 (MND-net)
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet. 2014 Apr 15;23(8):2220-31.
Fogh I1, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A,Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM,Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M,Pegoraro E, Comi GP, D’Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators; ITALSGEN Consortium.
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14. April 2014 (MND-net)
Dimerization of visinin-like-protein 1 is regulated by oxidative stress and calcium and is a pathological hallmark of amyotrophic lateral sclerosis.
Free Radic Biol Med. 2014 Apr 14.
Liebl MP, Kaya AM, Tenzer S, Mittenzwei R, Koziollek-Drechsler I, Schild H, Moosmann B, Behl C, Clement AM.
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30. March 2014 (MND-net)
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Nat Neurosci. 2014 Mar 30.
Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ
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20. February 2014 (MND-net)
Transcranial brainstem sonography as a diagnostic tool for amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener. 2014 Feb 20. [Epub ahead of print]
Prell T, Schenk A, Witte OW, Grosskreutz J, Günther A.
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1. February 2014 (MND-net)
Wild-type Cu/Zn superoxide dismutase stabilizes mutant variants by heterodimerization.
Neurobiol Dis. 2014 Feb;62:479-88.
Weichert A, Besemer AS, Liebl M, Hellmann N, Koziollek-Drechsler I, Ip P, Decker H, Robertson J, Chakrabartty A, Behl C, Clement AM.
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1. February 2014 (MND-net)
Can lesions to the motor cortex induce amyotrophic lateral sclerosis?
J Neurol. 2014 Feb;261(2):283-90. doi: 10.1007/s00415-013-7185-7. Epub 2013 Nov 20
Rosenbohm A, Kassubek J, Weydt P, Marroquin N, Volk AE, Kubisch C, Huppertz HJ, Weber M, Andersen PM, Weishaupt JH, Ludolph AC; ALS Schwaben Register Group
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1. January 2014 (MND-net)
Relationships Between Disease Severity, Social Support and Health-Related Quality of Life in Patients with Amyotrophic Lateral Sclerosis.
Social Indicator Research 2014 DOI 10.1007/s11205-014-0621-y
Benjamin Ilse, Tino Prell, Mario Walther, Viktor Hartung, Susanne Penzlin, Florian Tietz, Otto-Wilhelm Witte, Bernhard Strauss, Julian Grosskreutz.
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1. January 2014 (MND-net)
Umstände und Wahrnehmungen des Versterbens von ALS-Patienten ? Erfahrungen hinterbliebener Angehöriger. Circumstances and Perception of Dying of ALS Patients ? Experiences of Caregivers.
Palliativmedizin 2014; 15(01): 28-35
B. Ilse<1, V. Hartung<4, K. Ilse<4, S. Philipp<2, T. Prell<3, B. Strauß<2, O. W. Witte<3, < 5, J. Grosskreutz<3
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1. December 2013 (MND-net)
The involvement of the cerebellum in amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):507-15.
Prell T, Grosskreutz J.
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1. November 2013 (MND-net)
Quality of life (QoL), depression and vital decision making in Amyotrophic Lateral Sclerosis and the social environment.
J Neurol. 2013 Nov;260(11):2836-43
Lulé D, Ehlich B, Lang D, Sorg S, Heimrath J, Kübler A, Birbaumer N, Ludolph AC.
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30. August 2013 (MND-net)
Quality of life in fatal disease: the flawed judgement of the social environment
J Neurol. 2013 Aug 30. [Epub ahead of print]
Lulé D, Ehlich B, Lang D, Sorg S, Heimrath J, Kübler A, Birbaumer N, Ludolph AC.
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1. August 2013 (MND-net)
Diffusion tensor imaging patterns differ in bulbar and limb onset amyotrophic lateral sclerosis.
Clin Neurol Neurosurg. 2013 Aug;115(8):1281-7.
Prell T, Peschel T, Hartung V, Kaufmann J, Klauschies R, Bodammer N, Kollewe K, Dengler R, Grosskreutz J.
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30. July 2013 (MND-net)
Systemic dysregulation of TDP-43 binding microRNAs in Amyotrophic lateral sclerosis.
Acta Neuropathol Commun. 2013 Jul 30;1(1):42.
Axel Freischmidt, Kathrin Müller, Albert C. Ludolph, Jochen H. Weishaupt.
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1. June 2013 (MND-net)
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
Neurobiol Aging. 2013 Jun;34(6):1708.e1-6.
Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH.
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1. May 2013 (MND-net)
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.
Neurobiol Aging. 2013 May;34(5):1516.e9-15.
Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, Ludolph AC, Andersen PM. Neurobiol Aging.
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17. April 2013 (MND-net)
Severe Loss of Appetite in Amyotrophic Lateral Sclerosis Patients: Online Self-Assessment Study.
Interact J Med Res. 2013 Apr 17;2(1):e8.
Holm T, Maier A, Paul W, Lang D, Linke P, Münch C, Steinfurth L, Meyer R, Meyer T.
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15. April 2013 (MND-net)
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis.
Hum Mol Genet. 2013 Apr 15;22(8):1581-600
Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, Deschauer M, Troost D, Weis J.
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15. April 2013 (MD-NetMND-net)
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis.
Hum Mol Genet. 2013 Apr 15;22(8):1581-600. doi: 10.1093/hmg/ddt008. Epub 2013 Jan 11.
Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, Deschauer M, Troost D, Weis J.